3个新疆维吾尔族先天缺牙家系AXIN2基因突变的检测  

Detection of mutations of Axin2 with nonsyndromic hypodontia in three Xinjiang Uyghur families

作　　者：刘佳怡 王建青 迪丽努尔.阿吉 汪振华 王媛 杨译辉 

机构地区：[1]乌鲁木齐市口腔医院修复科,乌鲁木齐830002 [2]新疆医科大学第一附属医院口腔修复科,乌鲁木齐830054

出　　处：《新疆医科大学学报》2014年第11期1454-1458,共5页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区自然科学基金(2011211A078)

摘　　要：目的探讨新疆维吾尔族非综合征型先天缺牙患者标本中轴抑制基因-2(AXIN2)的突变位点,为研究维吾尔族人群中先天缺牙疾病的发病机制提供基因学参考和依据。方法通过临床先证者找到3个新疆维吾尔族非综合征型先天缺牙家系9例患者,在患者及其家属知情同意的情况下,采集家系成员颊黏膜拭子,提取目的基因组DNA,采用聚合酶链反应技术,对分段纯化的PCR产物进行DNA双向测序检测患者的DNA。结果 3个维吾尔族家系的非综合型先天缺牙临床表型符合常染色体显性遗传规律,患者出现不同数量的缺失牙或同时伴发锥形牙。测序后检测出病例Ⅰ、Ⅲ、Ⅳ、Ⅴ、Ⅵ的AXIN2基因在外显子2的第264位和第547位、外显子6的第162位与外显子11的第922位和第1 141位有突变。结论 AXIN2基因片段中某些编码基因的改变可能与维吾尔族单纯型先天缺牙存在相关性。Objective To explore the mutational sites of AXIN2 in Xinjiang Uygur patients with oligodontia of non-syndrome and to provide a molecular basis and genomics reference for the diseases in the population of Uygur.Methods Through clinical proband we found three Uygur non-syndromic hypodontia families, and DNA was extracted from buccal swab samples from family members,exons of the AXIN2 gene was amplified with polymerase chain reaction technique and then directly sequenced.Results 3 non-syndromic oligodontia Uighur families were inherited in autosomal dominant manner,and in these families patients suffered from missing teeth or cone-shaped teeth.Sequence results of Axin2 showed 5 SNPs.Conclusion The results suggest that the 5 nucleotide change in exon2 and exon6 and exon11 in AXIN2 gene is respon-sible for oligodontia in Xinjiang Uyghur.

关 键 词：先天缺牙 AXIN2 基因突变 单核苷酸多态性 

分 类 号：R783.4[医药卫生—口腔医学]